title: Accuracy of epidermal growth factor receptor gene mutation analysis by direct sequencing method based on small biopsy specimens from patients with non-small cell lung cancer: analysis of results in 19 patients.
abstract: BACKGROUND
  The importance of an epidermal growth factor receptor (EGFR) gene mutation has been recognized in patients with non-small cell lung cancer (NSCLC), and many reports have indicated that the presence of somatic mutations in the EGFR gene is a strong predictor of both clinical and in vitro sensitivity to EGFR tyrosine kinase inhibitors; thus necessitating the standardization of a mutation screening system based on the sources of tissue samples.
  
  
  METHODS
  In this study, we compared the results of EGFR mutation analyses in 19 small biopsy specimens with results obtained in surgical materials from the same patients with NSCLC. We used a laser microdissection method and a direct sequencing method, and we confirmed the accuracy of EGFR mutation analysis with small biopsy specimens.
  
  
  RESULTS
  The results obtained from the biopsy specimens were identical to those obtained from the surgical materials in 18 of the 19 patients analyzed. For the 1 patient in whom the results obtained from the two sets of materials were not identical, the number of cancer cells in one bronchoscopic specimen was insufficient to perform analyses of all three exons of interest (i.e., exons 18, 19, and 21), and so only exon 19 was sequenced, and no mutation was demonstrated.
  
  
  CONCLUSIONS
  We conclude that satisfactory accuracy can be achieved by the genomic analysis of a small biopsy specimen from a patient with NSCLC and we note that it is possible to conduct prospective clinical trials that include patient assignment for treatment based on the results obtained.
authors.affiliation: Department of Respiratory Medicine, Kyoto University Hospital, 54 Shogoin-Kawaracho, Sakyo-ku, Kyoto 606-8507, Japan. masago@kuhp.kyoto-u.ac.jp
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Masago
authors.forename: Shiro
authors.initials: S
authors.lastname: Fujita
authors.forename: Tadashi
authors.initials: T
authors.lastname: Mio
authors.forename: Masataka
authors.initials: M
authors.lastname: Ichikawa
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Sakuma
authors.forename: Young Hak
authors.initials: YH
authors.lastname: Kim
authors.forename: Yukimasa
authors.initials: Y
authors.lastname: Hatachi
authors.forename: Akiko
authors.initials: A
authors.lastname: Fukuhara
authors.forename: Kiyofumi
authors.initials: K
authors.lastname: Kamiyama
authors.forename: Makoto
authors.initials: M
authors.lastname: Sonobe
authors.forename: Ryo
authors.initials: R
authors.lastname: Miyahara
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Date
authors.forename: Michiaki
authors.initials: M
authors.lastname: Mishima
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D018773:Genes, erbB-1; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016612:Paraffin Embedding; D017422:Sequence Analysis, DNA